Potulska-Chromik, 2017: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
6
|
n.a.
|
n.a.
|
Dystonia, focal
Dystonia, limb Dystonia (any or unspecified) Dystonia, foot Lower limb dystonia Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Parkinsonism
Bradykinesia |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
10
|
n.a.
|
Dystonia, segmental/multifocal
Lower limb dystonia Dystonia, hand Dystonia, limb Dystonia, task-specific Upper limb dystonia Dystonia (any or unspecified) Dystonia, foot Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Dyskinesia Dystonia, limb Dystonia, axial Diurnal fluctuations Lower limb dystonia Dystonia, generalized Dystonia, foot Dystonia, segmental/multifocal Show more (+6) |
n.a.
|